Dyskeratosis Congenita With Corneal Limbal Insufficiency

ASLAN D., ÖZDEK Ş., Camurdan O., BİDECİ A., CİNAZ P.

PEDIATRIC BLOOD & CANCER, cilt.53, sa.1, ss.95-97, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1002/pbc.21960
  • Dergi Adı: PEDIATRIC BLOOD & CANCER
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.95-97
  • Anahtar Kelimeler: dyskeratosis congenita, limbal insufficiency, stem cell, telomere length, MARROW FAILURE SYNDROMES, STEM-CELLS, TELOMERE MAINTENANCE, BLOOM-SYNDROME, DISORDER
  • Gazi Üniversitesi Adresli: Evet

Özet

We describe a newly diagnosed Turkish adolescent female with Dyskeratosis congenita along with the novel ocular finding of corneal limbal insufficiency. Corneal limbal insufficiency was suggested to be a premature aging sign resulting from a deficiency in corneal stein cell activity, a biological process caused by underlying telomeric defect in this disease. Pediatr Blood Cancer 2009;53:95-97. (C) 2()09 Wiley-Liss, Inc.